ClinVar Miner

Variants in gene PMS2

See also:
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than one submission, it may be counted in more than one significance column. If this is the case, the total number of variants will be less than the sum of the other cells.

pathogenic likely pathogenic uncertain significance likely benign benign not provided total
350 125 1422 735 113 36 2453

Condition and significance breakdown #

Total conditions: 25
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Condition pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Hereditary cancer-predisposing syndrome 143 40 830 485 46 0 1457
Hereditary nonpolyposis colon cancer 198 41 858 265 55 0 1416
not provided 95 31 341 149 26 3 614
not specified 5 0 117 244 71 31 412
Lynch syndrome 100 36 132 14 36 2 306
Hereditary nonpolyposis colorectal cancer type 4 24 20 143 52 35 0 242
Turcot syndrome; Hereditary nonpolyposis colorectal cancer type 4 6 1 27 1 0 0 35
Lynch syndrome I 2 3 11 3 8 0 25
Turcot syndrome 16 2 1 0 0 0 19
Hereditary breast and ovarian cancer syndrome 0 0 7 0 0 0 7
Burkitt lymphoma; Lymphoma 2 0 0 0 0 0 2
Colon polyps 0 1 1 0 0 0 2
Tumor susceptibility linked to germline BAP1 mutations 1 0 1 0 0 0 2
Acute lymphoid leukemia; Glioblastoma 1 0 0 0 0 0 1
Colon cancer 1 0 0 0 0 0 1
Colorectal cancer, non-polyposis 1 0 0 0 0 0 1
Familial cancer of breast 0 1 0 0 0 0 1
Germinoma (disease) 0 0 1 0 0 0 1
Hereditary cancer 0 0 0 0 0 1 1
Low Grade Glioma 0 0 1 0 0 0 1
Ovarian Neoplasms 1 0 0 0 0 0 1
Pituitary carcinoma 0 1 0 0 0 0 1
Pulmonary arterial hypertension; Respiratory insufficiency; Pulmonary insufficiency 1 0 0 0 0 0 1
T Lymphoblastic Leukemia/Lymphoma 0 0 1 0 0 0 1
Turcot syndrome; Lynch syndrome 0 0 0 0 0 1 1

Submitter and significance breakdown #

Total submitters: 58
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Submitter pathogenic likely pathogenic uncertain significance likely benign benign not provided total
Invitae 227 45 921 356 56 0 1604
Ambry Genetics 126 32 694 339 34 0 1224
Color 43 7 317 245 31 0 642
GeneDx 88 17 274 195 44 0 618
Integrated Genetics/Laboratory Corporation of America 16 13 114 62 18 0 223
Quest Diagnostics Nichols Institute San Juan Capistrano 21 16 96 31 11 0 174
Counsyl 10 10 85 19 13 0 137
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) 58 11 1 6 28 0 104
Illumina Clinical Services Laboratory,Illumina 0 3 44 18 16 0 81
Mendelics 3 3 54 17 4 0 80
PreventionGenetics,PreventionGenetics 4 0 18 18 32 0 72
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 19 4 20 1 8 0 52
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 8 0 5 6 25 0 44
Department of Pathology and Laboratory Medicine,Sinai Health System 10 5 8 6 14 0 43
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 1 6 2 30 0 39
University of Washington Department of Laboratory Medicine, University of Washington 5 2 21 6 4 0 38
Fulgent Genetics,Fulgent Genetics 6 1 27 1 0 0 35
CeGaT Praxis fuer Humangenetik Tuebingen 5 1 20 8 0 0 34
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 7 0 1 5 20 0 33
ITMI 0 0 0 0 0 31 31
True Health Diagnostics 3 0 5 17 5 0 30
GeneKor MSA 4 1 19 3 0 0 27
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 1 13 0 12 0 26
OMIM 19 0 0 0 0 0 19
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 1 0 0 2 15 0 18
Pathway Genomics 1 2 5 2 7 0 17
Genetic Services Laboratory, University of Chicago 1 0 4 8 3 0 16
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 0 0 4 12 0 16
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 1 0 0 3 10 0 14
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 0 5 2 6 0 13
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 0 0 8 3 0 11
CSER _CC_NCGL, University of Washington 4 2 4 0 0 0 10
Human Genome Sequencing Center Clinical Lab,Baylor College of Medicine 7 2 0 0 0 0 9
Cancer Genomics Group,Japanese Foundation For Cancer Research 0 0 7 0 0 0 7
Vantari Genetics 1 0 0 3 2 0 6
GenomeConnect, ClinGen 0 0 0 0 0 6 6
Clinical Genomics Lab,St. Jude Children's Research Hospital 2 1 3 0 0 0 6
Ding PR Lab,Sun Yat-sen University Cancer Center 0 0 6 0 0 0 6
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 4 0 0 0 0 0 4
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 1 0 0 1 2 0 4
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 3 0 0 0 3
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 1 1 1 0 0 0 3
Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C. 0 0 1 1 0 0 2
IntelligeneCG 0 0 0 0 2 0 2
Gharavi Laboratory,Columbia University 1 1 0 0 0 0 2
Academic Department of Medical Genetics, University of Cambridge 0 1 0 0 0 0 1
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 0 0 0 1 0 1
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 1 0 0 0 0 1
Human Genetics Unit,University of Colombo 0 1 0 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 1 0 0 0 0 1
Genetic Laboratory,Instituto Nacional de Cancer 0 0 1 0 0 0 1
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 1 0 0 0 0 1
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 1 0 0 0 0 1
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 1 0 0 0 0 0 1
3DMed Clinical Laboratory Inc 1 0 0 0 0 0 1
Department of Molecular Diagnostics,Institute of Oncology 0 1 0 0 0 0 1
MutSpliceDB: a database of splice sites variants effects on splicing,NIH 0 0 0 0 0 1 1
German Consortium for Hereditary Breast and Ovarian Cancer Center Cologne,University Hospital Cologne 1 0 0 0 0 0 1

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